Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal testis morphology (HP:0000035)

Grandparent Node:
Gonadal neoplasm (HP:0010785)

Grandparent Node:
Neoplasm of the male external genitalia (HP:0100848)

Parent Node:
Gonadoblastoma (HP:0000150)

Parent Node:
Testicular neoplasm (HP:0010788)

..Starting node
..Testicular gonadoblastoma (HP:0000030)

Term ID:

Name:

Testicular gonadoblastoma

Synonym:

Gonadoblastoma, male

Definition:

The presence of a gonadoblastoma of the testis.

Comments:

Reference:

HP:0000030

Genes and Diseases:

Child Nodes:

Sister Nodes:

Leydig cell neoplasia (HP:0100618)

Sertoli cell neoplasm (HP:0100619)

Testicular adrenal rest tumor (HP:0025451)

Testicular mesothelioma (HP:0100005)

Testicular seminoma (HP:0100617)

Testicular teratoma (HP:0100616)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	AR CL E G H	367	99429	ORPHA	0	479	644	313700
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	AR CL E G H	367	99429	ORPHA	0	525	644	313700
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	DMRT3 CL E G H	58524	251510	ORPHA	0	198	13909	614754
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	DMRT3 CL E G H	58524	251510	ORPHA	0	196	13909	614754
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	GATA4 CL E G H	2626	251510	ORPHA	0	464	4173	600576
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	GATA4 CL E G H	2626	251510	ORPHA	0	541	4173	600576
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	MAP3K1 CL E G H	4214	251510	ORPHA	0	168	6848	600982
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	MAP3K1 CL E G H	4214	251510	ORPHA	0	151	6848	600982
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	NR0B1 CL E G H	190	251510	ORPHA	0	286	7960	300473
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	NR0B1 CL E G H	190	251510	ORPHA	0	296	7960	300473
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	NR5A1 CL E G H	2516	251510	ORPHA	0	177	7983	184757
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	NR5A1 CL E G H	2516	251510	ORPHA	0	161	7983	184757
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	SOX9 CL E G H	6662	251510	ORPHA	0	211	11204	608160
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	SOX9 CL E G H	6662	251510	ORPHA	0	242	11204	608160
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	SRY CL E G H	6736	251510	ORPHA	0	109	11311	480000
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	SRY CL E G H	6736	251510	ORPHA	0	99	11311	480000
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	VAMP7 CL E G H	6845	251510	ORPHA	0	124	11486	300053
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	VAMP7 CL E G H	6845	251510	ORPHA	0	125	11486	300053
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	WT1 CL E G H	7490	251510	ORPHA	0	1018	12796	607102
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	WT1 CL E G H	7490	251510	ORPHA	0	873	12796	607102
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	WWOX CL E G H	51741	251510	ORPHA	0	767	12799	605131
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	WWOX CL E G H	51741	251510	ORPHA	0	879	12799	605131
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	ZFPM2 CL E G H	23414	251510	ORPHA	0	211	16700	603693
HP:0000030	HP:0000030	Testicular gonadoblastoma	0	ZFPM2 CL E G H	23414	251510	ORPHA	0	195	16700	603693

Genes (12) :AR DMRT3 GATA4 MAP3K1 NR0B1 NR5A1 SOX9 SRY VAMP7 WT1 WWOX ZFPM2

Diseases (2) :99429 251510

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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